What's New

Last Posted: Dec 07, 2019

• Expensive treatments for genetic disorders are arriving. But who should foot the bill?
  Nature, December 2019
• Gene therapy is facing its biggest challenge yet
  Nature, December 2019
• Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy
  LA Eberly et al, JAMA Cardiology, December 4, 2019
• Too many children live too far from sickle cell treatment they need
  GB Staples, AJC, November 2019
• Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
  Kanavy Dona M et al. Genome medicine 2019 Nov 11(1) 77
• Genetic testing preferences and intentions in patients with clinically diagnosed familial hypercholesterolemia.
  Wand Hannah et al. Journal of genetic counseling 2019 Nov
• Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK CF registry-based study.
  Schlüter Daniela K et al. Thorax 2019 Nov
• International perspectives on the implementation of reproductive carrier screening.
  Delatycki Martin B et al. Prenatal diagnosis 2019 Nov
• Crowdsourcing pneumothorax annotations using machine learning annotations on the NIH chest X-ray dataset.
  Filice Ross W et al. Journal of digital imaging 2019 Nov
• Screening Human Embryos for Polygenic Traits Has Limited Utility.
  Karavani Ehud et al. Cell 2019 Nov 179(6) 1424-1435.e8
• Finding individuals with familial hypercholesterolemia using FIND FH (machine learning and big data)
  FH Foundation, youtube video, December 2, 2019
• Polygenic background modifies penetrance of monogenic variants conferring risk for coronary artery disease, breast cancer, or colorectal cancer
  AC Fahed et al, MedRXIV, November 29, 2019
• Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
  Bianchi Paola et al. American journal of hematology 2019 94(1) 149-161
• Diagnosis and Management of Genetic Iron Overload Disorders.
  Palmer William C et al. Journal of general internal medicine 2018 33(12) 2230-2236
• Return of genetic and genomic research findings: experience of a pediatric biorepository.
  Papaz Tanya et al. BMC medical genomics 2019 Nov 12(1) 173
• Role play for genetic counseling learning: Value and students perceptions.
  Ben Abdelaziz Rim et al. La Tunisie medicale 2019 Mar 97(3) 426-431
• Should we Consider Lipoprotein (a) in Cardiovascular Disease Risk Assessment in Patients with Familial Hypercholesterolaemia?
  Anagnostis Panagiotis et al. Current pharmaceutical design 2018 24(31) 3665-3671
• What the Cardiologist Should Know About Mitochondrial Cardiomyopathy?
  St-Pierre Guillaume et al. The Canadian journal of cardiology 2019 35(2) 221-224
• Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis.
  M Vujkovic et al, BIoRXIV preprints, November 2019
• Diagnosing With a Camera From a Distance—Proceed Cautiously and Responsibly
  MP Turakhia, JAMA Cardiology, November 2019